메뉴 건너뛰기




Volumn 20, Issue 2, 1999, Pages 71-81

Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease

Author keywords

Cone rod dystrophy; Linkage analysis; Macular degeneration; Retina; Stargardt disease

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR;

EID: 0032781322     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.20.2.71.2287     Document Type: Article
Times cited : (29)

References (45)
  • 2
    • 0029035306 scopus 로고
    • Retinal photoreceptor dystrophies: Ll. Edward Jackson memorial lecture
    • Bird AC. Retinal photoreceptor dystrophies: Ll. Edward Jackson memorial lecture. Am J Ophthalmol 1995;119:543-562.
    • (1995) Am J Ophthalmol , vol.119 , pp. 543-562
    • Bird, A.C.1
  • 4
    • 0026509057 scopus 로고
    • Cone and cone-rod dystrophies
    • Moore AT. Cone and cone-rod dystrophies. J Med Genet 1992;29: 289-290.
    • (1992) J Med Genet , vol.29 , pp. 289-290
    • Moore, A.T.1
  • 6
    • 0031974462 scopus 로고    scopus 로고
    • A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1
    • Payne AM, Downes SM, Bessant DA, Taylor R, Holder GE, Warren MJ, Bird AC, Bhattachyra SS. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum Mol Genet 1998;7:273-277.
    • (1998) Hum Mol Genet , vol.7 , pp. 273-277
    • Payne, A.M.1    Downes, S.M.2    Bessant, D.A.3    Taylor, R.4    Holder, G.E.5    Warren, M.J.6    Bird, A.C.7    Bhattachyra, S.S.8
  • 7
    • 0030026464 scopus 로고    scopus 로고
    • Mapping of autosomal dominant cone degeneration to chromosome 17p
    • Small KW, Syrquin M, Mullen L, Gehrs K. Mapping of autosomal dominant cone degeneration to chromosome 17p. Am J Ophthalmol 1996;121:13-18.
    • (1996) Am J Ophthalmol , vol.121 , pp. 13-18
    • Small, K.W.1    Syrquin, M.2    Mullen, L.3    Gehrs, K.4
  • 10
    • 0016723791 scopus 로고
    • Long arm deletion of chromosome no. 6 in a mentally retarted boy with multiple physical malformation
    • Milosevic J, Kalicanin P. Long arm deletion of chromosome no. 6 in a mentally retarted boy with multiple physical malformation. J Ment Defic Res 1975;19:139-144.
    • (1975) J Ment Defic Res , vol.19 , pp. 139-144
    • Milosevic, J.1    Kalicanin, P.2
  • 11
    • 0027586494 scopus 로고
    • Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1
    • Klystra JA, Aylsworth AS. Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1. Can J Ophthalmol 1993;28:79-80.
    • (1993) Can J Ophthalmol , vol.28 , pp. 79-80
    • Klystra, J.A.1    Aylsworth, A.S.2
  • 12
    • 0025802099 scopus 로고
    • Deletion mapping of a retinal cone-rod dystrophy: Assignment to 18q211
    • Warburg M, Sjo O, Tranebjaerg L, Fledelius HC. Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211. Am J Med Genet 1991;39:288-293.
    • (1991) Am J Med Genet , vol.39 , pp. 288-293
    • Warburg, M.1    Sjo, O.2    Tranebjaerg, L.3    Fledelius, H.C.4
  • 13
    • 0027979863 scopus 로고
    • X-linked progressive cone dystrophy: Localisation of the gene locus to Xp21-p11.1 by linkage analysis
    • Meire FM, Bergen AAB, De Rouck A, Leys M, Delleman JW. X-linked progressive cone dystrophy: localisation of the gene locus to Xp21-p11.1 by linkage analysis. Br J Ophthalmol 1994;78:103-108.
    • (1994) Br J Ophthalmol , vol.78 , pp. 103-108
    • Meire, F.M.1    Bergen, A.A.B.2    De Rouck, A.3    Leys, M.4    Delleman, J.W.5
  • 17
    • 0030045140 scopus 로고    scopus 로고
    • Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/ RDS gene
    • Nakazawa M, Kikawa E, Chida Y, Wada Y, Shiono T, Tamai M. Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/ RDS gene. Arch Ophthalmol 1996; 114:72-78.
    • (1996) Arch Ophthalmol , vol.114 , pp. 72-78
    • Nakazawa, M.1    Kikawa, E.2    Chida, Y.3    Wada, Y.4    Shiono, T.5    Tamai, M.6
  • 18
    • 0029970778 scopus 로고    scopus 로고
    • Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/ RDS gene
    • Nakazawa M, Naoi N, Wada Y, Kakazaki S, Maruiwa F, Sawada A, Tamai M. Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/ RDS gene. Retina 1996;16:405-410.
    • (1996) Retina , vol.16 , pp. 405-410
    • Nakazawa, M.1    Naoi, N.2    Wada, Y.3    Kakazaki, S.4    Maruiwa, F.5    Sawada, A.6    Tamai, M.7
  • 20
    • 34347130460 scopus 로고
    • Ueber familiare, progressive Degeneration in der Makulagegend des Auges
    • Stargardt K. Ueber familiare, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Arch Klin Exp Ophthalmol 1909;71:534-549.
    • (1909) Albrecht Von Graefes Arch Klin Exp Ophthalmol , vol.71 , pp. 534-549
    • Stargardt, K.1
  • 21
    • 0018308824 scopus 로고
    • Stargardt disease and fundus flavimaculatus
    • Noble KG, Carr RE. Stargardt disease and fundus flavimaculatus. Arch Ophthalmol 1979;97:1281-1285.
    • (1979) Arch Ophthalmol , vol.97 , pp. 1281-1285
    • Noble, K.G.1    Carr, R.E.2
  • 22
    • 0017191706 scopus 로고
    • Fundus flavimaculatus and Stargardt disease
    • Hadden OB, Gass JDM. Fundus flavimaculatus and Stargardt disease. Am J Ophthalmol 1976;82(4):527-539.
    • (1976) Am J Ophthalmol , vol.82 , Issue.4 , pp. 527-539
    • Hadden, O.B.1    Gass, J.D.M.2
  • 23
    • 0019289924 scopus 로고
    • Retinal pigment epithelial abnormalities in fundus flavimaculatus: A light and electron microscopic study
    • Eagle, RC Jr, Lucier AC, Bernardino VB Jr, Yanoff M. Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic study. Ophthalmology 1980;87:1198-1200.
    • (1980) Ophthalmology , vol.87 , pp. 1198-1200
    • Eagle Jr., R.C.1    Lucier, A.C.2    Bernardino Jr., V.B.3    Yanoff, M.4
  • 24
    • 0025363287 scopus 로고
    • Autosomal-dominant fundus flavimaculatus: Clinicopathologic correlation
    • Lopez PF, Maumenee IH, Cruz Z, Green WR. Autosomal-dominant fundus flavimaculatus: clinicopathologic correlation. Ophthalmology 1990;97:798-809.
    • (1990) Ophthalmology , vol.97 , pp. 798-809
    • Lopez, P.F.1    Maumenee, I.H.2    Cruz, Z.3    Green, W.R.4
  • 25
    • 0019406722 scopus 로고
    • The dark choroid in posterior retinal dystrophies
    • Fish G, Grey R, Sehmi KS, Bird AC. The dark choroid in posterior retinal dystrophies. Br J Ophthalmol 1981; 65:359-363.
    • (1981) Br J Ophthalmol , vol.65 , pp. 359-363
    • Fish, G.1    Grey, R.2    Sehmi, K.S.3    Bird, A.C.4
  • 26
    • 0017052368 scopus 로고
    • Fundus flavimaculatus: A clinical classification
    • Fishman GA. Fundus flavimaculatus: a clinical classification. Arch Ophthalmol 1976;94:2061-2067.
    • (1976) Arch Ophthalmol , vol.94 , pp. 2061-2067
    • Fishman, G.A.1
  • 30
    • 0028309553 scopus 로고
    • Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q
    • Stone EM, Nichols BE, Kimura AE, Weingeist TA, Drack A, Sheffield VC. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol 1994;112:765-772.
    • (1994) Arch Ophthalmol , vol.112 , pp. 765-772
    • Stone, E.M.1    Nichols, B.E.2    Kimura, A.E.3    Weingeist, T.A.4    Drack, A.5    Sheffield, V.C.6
  • 31
    • 0018951516 scopus 로고
    • Dominantly inherited macular dystrophy with flecks (Stargardt)
    • Cibis GW. Dominantly inherited macular dystrophy with flecks (Stargardt). Arch Ophthalmol 1980; 98:1785-1789.
    • (1980) Arch Ophthalmol , vol.98 , pp. 1785-1789
    • Cibis, G.W.1
  • 32
    • 0026619003 scopus 로고
    • Long-term follow-up of dominant macular dystrophy with flecks (Stargardt)
    • Mansour AM. Long-term follow-up of dominant macular dystrophy with flecks (Stargardt). Ophthalmologica 1992;205:138-143.
    • (1992) Ophthalmologica , vol.205 , pp. 138-143
    • Mansour, A.M.1
  • 33
    • 0024393212 scopus 로고
    • Standard for clinical electroretinography
    • International Society for the Clinical Electrophysiology of Vision, International Standardization Committee. Standard for clinical electroretinography. Arch Ophthalmol 1989;197:816-819.
    • (1989) Arch Ophthalmol , vol.197 , pp. 816-819
  • 34
    • 0021850103 scopus 로고
    • Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
    • Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985;37:482-498.
    • (1985) Am J Hum Genet , vol.37 , pp. 482-498
    • Lathrop, G.M.1    Lalouel, J.M.2    Julier, C.3    Ott, J.4
  • 36
    • 0025368589 scopus 로고
    • Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents
    • Albertsen HM, Abderrahim H, Cann HM, Dausset J, Le Paslier D, Cohen D. Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc Natl Acad Sci USA 1990;87(11):4256-4260.
    • (1990) Proc Natl Acad Sci USA , vol.87 , Issue.11 , pp. 4256-4260
    • Albertsen, H.M.1    Abderrahim, H.2    Cann, H.M.3    Dausset, J.4    Le Paslier, D.5    Cohen, D.6
  • 38
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989;5(4): 874-879.
    • (1989) Genomics , vol.5 , Issue.4 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 40
    • 0030271564 scopus 로고    scopus 로고
    • A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect
    • Leppanen P, Isosomppi J, Schleutker J, Aula P, Peltonen L. A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect. Genomics 1996;37(1):62-67.
    • (1996) Genomics , vol.37 , Issue.1 , pp. 62-67
    • Leppanen, P.1    Isosomppi, J.2    Schleutker, J.3    Aula, P.4    Peltonen, L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.